Unique variants in gene CDK5RAP2

Information The variants shown are described using the NM_018249.4 transcript reference sequence.

84 entries on 1 page. Showing entries 1 - 84.
Legend  

Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-/. 3 - c.-19T>C r.(?) p.(=) - benign g.123342275A>G g.120579997A>G CDK5RAP2(NM_018249.5):c.-19T>C, CDK5RAP2(NR_073556.1):n.174T>C - CDK5RAP2_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_Groningen
-/. 3 - c.-3G>T r.(?) p.(=) - benign g.123342259C>A g.120579981C>A CDK5RAP2(NM_018249.5):c.-3G>T, CDK5RAP2(NR_073556.1):n.190G>T - CDK5RAP2_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
?/. 1 - c.1A>G r.(?) p.(Met1?) - VUS g.123342256T>C - CDK5RAP2(NM_018249.5):c.1A>G (p.M1?) - CDK5RAP2_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.51C>T r.(?) p.(Ser17=) - likely benign g.123342206G>A g.120579928G>A CDK5RAP2(NM_018249.5):c.51C>T (p.S17=) - CDK5RAP2_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.59+1G>T r.spl? p.? - pathogenic g.123342197C>A g.120579919C>A CDK5RAP2(NM_018249.5):c.59+1G>T - CDK5RAP2_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.128-147A>G r.(=) p.(=) - VUS g.123330813T>C g.120568535T>C - - CDK5RAP2_000002 - PubMed: Almomani 2011 dbSNP - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - c.239G>A r.(?) p.(Arg80His) - VUS g.123313137C>T g.120550859C>T CDK5RAP2(NM_018249.5):c.239G>A (p.R80H) - CDK5RAP2_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.307-208A>G r.(=) p.(=) - VUS g.123308276T>C g.120545998T>C - - CDK5RAP2_000001 - PubMed: Almomani 2011 dbSNP - - Germline - - - - - Gerard C.P. Schaafsma
-/. 1 - c.307-4G>A r.spl? p.? - benign g.123308072C>T g.120545794C>T CDK5RAP2(NM_018249.5):c.307-4G>A - CDK5RAP2_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 2 - c.480A>C r.(?) p.(Leu160=) - benign g.123301346T>G g.120539068T>G CDK5RAP2(NM_018249.5):c.480A>C (p.L160=) - CDK5RAP2_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_Rotterdam
-/. 1 - c.507+12A>G r.(=) p.(=) - benign g.123301307T>C g.120539029T>C CDK5RAP2(NM_018249.5):c.507+12A>G - CDK5RAP2_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.524_528del r.(?) p.(Gln175ArgfsTer42) - VUS g.123298784_123298788del g.120536506_120536510del CDK5RAP2(NM_018249.5):c.524_528delAGGCA (p.Q175Rfs*42) - CDK5RAP2_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.660C>A r.(?) p.(Asp220Glu) - VUS g.123298652G>T g.120536374G>T CDK5RAP2(NM_018249.5):c.660C>A (p.D220E) - CDK5RAP2_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.817G>A r.(?) p.(Glu273Lys) - VUS g.123292264C>T g.120529986C>T CDK5RAP2(NM_001011649.1):c.817G>A (p.(Glu273Lys)) - CDK5RAP2_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 3 - c.865G>C r.(?) p.(Glu289Gln) - benign g.123291036C>G g.120528758C>G CDK5RAP2(NM_018249.5):c.865G>C (p.E289Q) - CDK5RAP2_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-/. 1 - c.879+26G>T r.(=) p.(=) - benign g.123290996C>A g.120528718C>A CDK5RAP2(NM_018249.5):c.879+26G>T - CDK5RAP2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.880-7A>G r.(=) p.(=) - benign g.123290210T>C g.120527932T>C CDK5RAP2(NM_018249.5):c.880-7A>G - CDK5RAP2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.951del r.(?) p.(Asp317GlufsTer7) - pathogenic g.123290132del g.120527854del CDK5RAP2(NM_018249.5):c.951delT (p.D317Efs*7) - CDK5RAP2_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.985T>A r.(?) p.(Ser329Thr) - likely benign g.123290098A>T g.120527820A>T CDK5RAP2(NM_001011649.1):c.985T>A (p.(Ser329Thr)) - CDK5RAP2_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.986C>A r.(?) p.(Ser329Ter) - likely benign g.123290097G>T g.120527819G>T CDK5RAP2(NM_001011649.1):c.986C>A (p.(Ser329Ter)) - CDK5RAP2_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.991G>A r.(?) p.(Glu331Lys) - likely benign g.123290092C>T g.120527814C>T CDK5RAP2(NM_001011649.1):c.991G>A (p.(Glu331Lys)) - CDK5RAP2_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.1093-27A>G r.(=) p.(=) - benign g.123280950T>C g.120518672T>C CDK5RAP2(NM_018249.5):c.1093-27A>G - CDK5RAP2_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.1093-14G>A r.(=) p.(=) - benign g.123280937C>T g.120518659C>T CDK5RAP2(NM_018249.5):c.1093-14G>A - CDK5RAP2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.1093-2A>G r.spl? p.? - pathogenic g.123280925T>C g.120518647T>C CDK5RAP2(NM_018249.5):c.1093-2A>G - CDK5RAP2_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1139C>T r.(?) p.(Ser380Leu) - likely benign g.123280877G>A g.120518599G>A CDK5RAP2(NM_018249.5):c.1139C>T (p.S380L) - CDK5RAP2_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.1149_1153dup r.(?) p.(Ser385CysfsTer26) - pathogenic g.123280871_123280875dup g.120518593_120518597dup CDK5RAP2(NM_018249.5):c.1149_1153dupGCGCT (p.S385Cfs*26) - CDK5RAP2_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.1218G>A r.(?) p.(Gln406=) - likely benign g.123280798C>T g.120518520C>T CDK5RAP2(NM_018249.5):c.1218G>A (p.Q406=) - CDK5RAP2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1339C>G r.(?) p.(Arg447Gly) - VUS g.123253728G>C g.120491450G>C CDK5RAP2(NM_001011649.1):c.1339C>G (p.(Arg447Gly)) - CDK5RAP2_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1376del r.(?) p.(Asn459IlefsTer7) - VUS g.123253694del g.120491416del CDK5RAP2(NM_001011649.1):c.1376del (p.(Asn459IlefsTer7)) - CDK5RAP2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1379G>A r.(?) p.(Arg460His) - VUS g.123253688C>T g.120491410C>T CDK5RAP2(NM_001011649.1):c.1379G>A (p.(Arg460His)) - CDK5RAP2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1406A>G r.(?) p.(Asn469Ser) - likely benign g.123253661T>C g.120491383T>C CDK5RAP2(NM_018249.5):c.1406A>G (p.N469S) - CDK5RAP2_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.1483-29T>G r.(=) p.(=) - benign g.123249744A>C g.120487466A>C CDK5RAP2(NM_018249.5):c.1483-29T>G - CDK5RAP2_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.1483-27T>G r.(=) p.(=) - benign g.123249742A>C g.120487464A>C CDK5RAP2(NM_018249.5):c.1483-27T>G - CDK5RAP2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1498G>C r.(?) p.(Asp500His) - VUS g.123249700C>G g.120487422C>G CDK5RAP2(NM_018249.5):c.1498G>C (p.D500H) - CDK5RAP2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.1727+15C>G r.(=) p.(=) - benign g.123239613G>C g.120477335G>C CDK5RAP2(NM_018249.5):c.1727+15C>G - CDK5RAP2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.1728-2A>C r.spl? p.? - pathogenic g.123234158T>G g.120471880T>G CDK5RAP2(NM_018249.5):c.1728-2A>C - CDK5RAP2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.1859-6G>T r.(=) p.(=) - likely benign g.123232504C>A g.120470226C>A CDK5RAP2(NM_001011649.1):c.1859-6G>T (p.(=)) - CDK5RAP2_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 1 - c.1865C>G r.(?) p.(Ser622*) ACMG likely pathogenic g.123232492G>C g.120470214G>C - - CDK5RAP2_000005 - Trujillano et al., submitted - - Germline - - - - - Daniel Trujillano
-/. 1 - c.2107-82del r.(=) p.(=) - benign g.123223037del g.120460759del CDK5RAP2(NM_018249.5):c.2107-82delA - CDK5RAP2_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.2107-82dup r.(=) p.(=) - benign g.123223037dup g.120460759dup CDK5RAP2(NM_018249.5):c.2107-82dupA - CDK5RAP2_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.2255C>T r.(?) p.(Thr752Met) - VUS g.123220848G>A g.120458570G>A CDK5RAP2(NM_018249.5):c.2255C>T (p.T752M) - CDK5RAP2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 3 - c.2274T>C r.(?) p.(Asp758=) - benign g.123220829A>G g.120458551A>G CDK5RAP2(NM_018249.5):c.2274T>C (p.D758=) - CDK5RAP2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_Groningen
-?/. 1 - c.2289C>T r.(?) p.(His763=) - likely benign g.123220814G>A g.120458536G>A CDK5RAP2(NM_018249.5):c.2289C>T (p.H763=) - CDK5RAP2_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2294C>G r.(?) p.(Pro765Arg) - VUS g.123220809G>C g.120458531G>C CDK5RAP2(NM_018249.5):c.2294C>G (p.P765R) - CDK5RAP2_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2643C>T r.(?) p.(Asp881=) - likely benign g.123215884G>A g.120453606G>A CDK5RAP2(NM_018249.5):c.2643C>T (p.D881=) - CDK5RAP2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2655C>G r.(?) p.(Phe885Leu) - likely benign g.123215872G>C g.120453594G>C CDK5RAP2(NM_018249.5):c.2655C>G (p.F885L) - CDK5RAP2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2809C>T r.(?) p.(Arg937Cys) - VUS g.123210389G>A g.120448111G>A CDK5RAP2(NM_018249.5):c.2809C>T (p.R937C) - CDK5RAP2_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.3002C>T r.(?) p.(Thr1001Met) - likely benign g.123210196G>A g.120447918G>A CDK5RAP2(NM_018249.5):c.3002C>T (p.T1001M) - CDK5RAP2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.3003G>A r.(?) p.(Thr1001=) - likely benign g.123210195C>T g.120447917C>T CDK5RAP2(NM_018249.5):c.3003G>A (p.T1001=) - CDK5RAP2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.3006C>G r.(?) p.(Pro1002=) - likely benign g.123210192G>C g.120447914G>C CDK5RAP2(NM_018249.5):c.3006C>G (p.P1002=) - CDK5RAP2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 3 - c.3065G>A r.(?) p.(Gly1022Glu) - benign g.123205981C>T g.120443703C>T CDK5RAP2(NM_018249.5):c.3065G>A (p.G1022E) - CDK5RAP2_000029 VKGL data sharing initiative Nederland, 28 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs34523498 CLASSIFICATION record, Germline - 28/2795 individuals - - - VKGL-NL_Nijmegen, Mohammed Faruq, VKGL-NL_Rotterdam
-/. 2 - c.3134G>C r.(?) p.(Arg1045Thr) - benign g.123205912C>G g.120443634C>G CDK5RAP2(NM_018249.5):c.3134G>C (p.R1045T) - CDK5RAP2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
?/. 1 - c.3265T>C r.(?) p.(Ser1089Pro) - VUS g.123202134A>G g.120439856A>G - - CDK5RAP2_000089 1 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs138526640 Germline - 1/2795 individuals - - - Mohammed Faruq
-?/. 1 - c.3278G>C r.(?) p.(Ser1093Thr) - likely benign g.123202121C>G g.120439843C>G CDK5RAP2(NM_018249.5):c.3278G>C (p.S1093T) - CDK5RAP2_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.3558C>T r.(?) p.(Leu1186=) - likely benign g.123201841G>A g.120439563G>A CDK5RAP2(NM_018249.5):c.3558C>T (p.L1186=) - CDK5RAP2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.3851T>A r.(?) p.(Leu1284Ter) - pathogenic g.123199677A>T g.120437399A>T - - CDK5RAP2_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.3866A>T r.(?) p.(Asp1289Val) - VUS g.123199662T>A g.120437384T>A CDK5RAP2(NM_018249.5):c.3866A>T (p.D1289V) - CDK5RAP2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 2 - c.4041G>A r.(?) p.(Leu1347=) - benign g.123182202C>T g.120419924C>T CDK5RAP2(NM_018249.5):c.4041G>A (p.L1347=) - CDK5RAP2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
?/. 1 - c.4259G>T r.(?) p.(Arg1420Leu) - VUS g.123177356C>A g.120415078C>A CDK5RAP2(NM_018249.5):c.4259G>T (p.R1420L) - CDK5RAP2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.4325C>T r.(?) p.(Ser1442Leu) - likely benign g.123173725G>A g.120411447G>A CDK5RAP2(NM_018249.5):c.4325C>T (p.S1442L) - CDK5RAP2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 2 - c.4415-161A>G r.(=) p.(=) - VUS g.123171755T>C g.120409477T>C - - CDK5RAP2_000004 - PubMed: Almomani 2011 dbSNP - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - c.4517A>G r.(?) p.(Glu1506Gly) - VUS g.123171492T>C g.120409214T>C CDK5RAP2(NM_018249.5):c.4517A>G (p.E1506G) - CDK5RAP2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.4546G>T r.(?) p.(Glu1516Ter) - VUS g.123171463C>A g.120409185C>A CDK5RAP2(NM_001011649.1):c.4546G>T (p.?) - CDK5RAP2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.4605-11G>C r.(=) p.(=) - likely benign g.123170757C>G g.120408479C>G CDK5RAP2(NM_018249.5):c.4605-11G>C - CDK5RAP2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 3 - c.4618G>C r.(?) p.(Val1540Leu) - benign g.123170733C>G g.120408455C>G CDK5RAP2(NM_018249.5):c.4618G>C (p.V1540L) - CDK5RAP2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_Groningen, VKGL-NL_Rotterdam
?/. 1 - c.4727-192G>C r.(=) p.(=) - VUS g.123169718C>G g.120407440C>G - - CDK5RAP2_000003 - PubMed: Almomani 2011 dbSNP - - Germline - - - - - Gerard C.P. Schaafsma
-?/. 1 - c.4730C>T r.(?) p.(Ala1577Val) - likely benign g.123169523G>A g.120407245G>A CDK5RAP2(NM_018249.5):c.4730C>T (p.A1577V) - CDK5RAP2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.4879del r.(?) p.(Ala1627GlnfsTer50) - pathogenic g.123169379del g.120407101del CDK5RAP2(NM_018249.5):c.4879delG (p.A1627Qfs*50) - CDK5RAP2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.4898G>C r.(?) p.(Gly1633Ala) - likely benign g.123169355C>G g.120407077C>G CDK5RAP2(NM_018249.5):c.4898G>C (p.G1633A) - CDK5RAP2_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.4963+1G>A r.spl? p.? - likely pathogenic g.123169289C>T g.120407011C>T CDK5RAP2(NM_018249.5):c.4963+1G>A - CDK5RAP2_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.5091C>T r.(?) p.(Cys1697=) - likely benign g.123165300G>A g.120403022G>A CDK5RAP2(NM_018249.5):c.5091C>T (p.C1697=) - CDK5RAP2_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.5241C>T r.(?) p.(Leu1747=) - likely benign g.123165150G>A g.120402872G>A CDK5RAP2(NM_018249.5):c.5241C>T (p.L1747=) - CDK5RAP2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.5285C>T r.(?) p.(Thr1762Ile) - likely benign g.123165106G>A g.120402828G>A CDK5RAP2(NM_001011649.1):c.5048C>T (p.(Thr1683Ile)) - CDK5RAP2_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.5308-6G>T r.(=) p.(=) - likely benign g.123163169C>A g.120400891C>A CDK5RAP2(NM_018249.5):c.5308-6G>T - CDK5RAP2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.5355G>A r.(?) p.(Thr1785=) - likely benign g.123163116C>T g.120400838C>T CDK5RAP2(NM_018249.5):c.5355G>A (p.T1785=) - CDK5RAP2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
?/. 1 - c.5362C>A r.(?) p.(Leu1788Met) - VUS g.123163109G>T g.120400831G>T CDK5RAP2(NM_018249.5):c.5362C>A (p.L1788M) - CDK5RAP2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 2 - c.5418C>T r.(?) p.(Pro1806=) - benign g.123163053G>A g.120400775G>A CDK5RAP2(NM_018249.5):c.5418C>T (p.P1806=) - CDK5RAP2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_Rotterdam
+?/. 1 - c.5433C>A r.(?) p.(Cys1811*) - likely pathogenic g.123163038G>T g.120400760G>T - - CDK5RAP2_000088 - - - - Unknown - - - - - IMGAG
-/. 1 - c.5454T>G r.(?) p.(Ile1818Met) - benign g.123156914A>C g.120394636A>C CDK5RAP2(NM_018249.5):c.5454T>G (p.I1818M) - CDK5RAP2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.5517G>A r.(?) p.(Leu1839=) - likely benign g.123156851C>T g.120394573C>T CDK5RAP2(NM_018249.5):c.5517G>A (p.L1839=) - CDK5RAP2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.5578T>C r.(?) p.(Leu1860=) - likely benign g.123156790A>G g.120394512A>G CDK5RAP2(NM_018249.5):c.5578T>C (p.L1860=) - CDK5RAP2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.5578+29C>G r.(=) p.(=) - benign g.123156761G>C g.120394483G>C CDK5RAP2(NM_018249.5):c.5578+29C>G - CDK5RAP2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.5602C>T r.(?) p.(Arg1868Trp) - VUS g.123152042G>A g.120389764G>A CDK5RAP2(NM_018249.5):c.5602C>T (p.R1868W) - CDK5RAP2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.5662C>G r.(?) p.(Pro1888Ala) - VUS g.123151534G>C g.120389256G>C CDK5RAP2(NM_018249.5):c.5662C>G (p.P1888A) - CDK5RAP2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
Legend